UPF1

Regulator of nonsense transcripts 1 (or Up-frameshift suppressor 1 homolog^[5]) is a protein that in humans is encoded by the UPF1 gene.^[6][7]

UPF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2GJK, 2GK6, 2GK7, 2IYK, 2WJV, 2WJY, 2XZO, 2XZP
Identifiers
Aliases	UPF1, HNORF1, RENT1, pNORF1, smg-2, RNA helicase and ATPase, UPF1 RNA helicase and ATPase, UTF
External IDs	OMIM: 601430; MGI: 107995; HomoloGene: 2185; GeneCards: UPF1; OMA:UPF1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.11 Start 18,831,959 bp[1] End 18,868,230 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 B3.3|8 34.15 cM Start 70,784,175 bp[2] End 70,805,928 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum mucosa of transverse colon olfactory zone of nasal mucosa granulocyte skin of leg anterior pituitary right uterine tube right testis right lobe of thyroid gland stromal cell of endometrium Top expressed in spermatocyte aortic valve granulocyte lip ascending aorta secondary oocyte ventricular zone yolk sac muscle of thigh neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding DNA binding telomeric DNA binding zinc ion binding chromatin binding metal ion binding protein binding hydrolase activity ATP binding helicase activity RNA binding Cellular component cytosol P-body exon-exon junction complex supraspliceosomal complex nucleoplasm chromatin cytoplasm nucleus Biological process regulation of translational termination telomere maintenance via semi-conservative replication positive regulation of mRNA catabolic process mRNA export from nucleus DNA replication nuclear-transcribed mRNA catabolic process cellular response to interleukin-1 nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay histone mRNA catabolic process dosage compensation by inactivation of X chromosome cellular response to lipopolysaccharide 3'-UTR-mediated mRNA destabilization DNA repair nuclear-transcribed mRNA catabolic process, nonsense-mediated decay regulation of telomere maintenance cell cycle phase transition viral process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5976 19704 Ensembl ENSG00000005007 ENSMUSG00000058301 UniProt Q92900 Q9EPU0 RefSeq (mRNA) NM_002911 NM_001297549 NM_001122829 NM_030680 RefSeq (protein) NP_001284478 NP_002902 NP_001284478.1 NP_001116301 NP_109605 Location (UCSC) Chr 19: 18.83 – 18.87 Mb Chr 8: 70.78 – 70.81 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein that is part of a post-splicing multiprotein complex, the exon junction complex, involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in both the cytoplasm and nucleus.^[8] When translation ends, it interacts with the functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene.^[9]

Interactions

UPF1 interacts with:

• DCP1A,^[10]
• DCP2,^[10][11]
• SMG1,^[12]
• UPF2,^{[11][12][13][14][15]}
• UPF3A,^[12][13][15] and
• UPF3B.^[11][13][15]